Gouya L - Search Results

1

Evaluation of mutation screening by heteroduplex analysis in acute intermittent porphyria: comparison with denaturing gradient gel electrophoresis.

Tchernitchko D, Lamoril J, Puy H, Robreau AM, Bogard C, Rosipal R, Gouya L, Deybach JC, Nordmann Y. Tchernitchko D, et al. Among authors: gouya l. Clin Chim Acta. 1999 Jan;279(1-2):133-43. doi: 10.1016/s0009-8981(98)00056-4. Clin Chim Acta. 1999. PMID: 10064125

2

Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele.

Gouya L, Deybach JC, Lamoril J, Da Silva V, Beaumont C, Grandchamp B, Nordmann Y. Gouya L, et al. Am J Hum Genet. 1996 Feb;58(2):292-9. Am J Hum Genet. 1996. PMID: 8571955 Free PMC article.

3

Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.

Puy H, Deybach JC, Lamoril J, Robreau AM, Da Silva V, Gouya L, Grandchamp B, Nordmann Y. Puy H, et al. Among authors: gouya l. Am J Hum Genet. 1997 Jun;60(6):1373-83. doi: 10.1086/515455. Am J Hum Genet. 1997. PMID: 9199558 Free PMC article.

4

Neonatal hemolytic anemia due to inherited harderoporphyria: clinical characteristics and molecular basis.

Lamoril J, Puy H, Gouya L, Rosipal R, Da Silva V, Grandchamp B, Foint T, Bader-Meunier B, Dommergues JP, Deybach JC, Nordmann Y. Lamoril J, et al. Among authors: gouya l. Blood. 1998 Feb 15;91(4):1453-7. Blood. 1998. PMID: 9454777 Free article.

5

Epidemiology of hepatitis C and G in sporadic and familial porphyria cutanea tarda.

Lamoril J, Andant C, Bogard C, Puy H, Gouya L, Pawlotsky JM, Da Silva V, Soulé JC, Deybach JC, Nordmann Y. Lamoril J, et al. Among authors: gouya l. Hepatology. 1998 Mar;27(3):848-52. doi: 10.1002/hep.510270329. Hepatology. 1998. PMID: 9500716

6

Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.

Rüfenacht UB, Gouya L, Schneider-Yin X, Puy H, Schäfer BW, Aquaron R, Nordmann Y, Minder EI, Deybach JC. Rüfenacht UB, et al. Among authors: gouya l. Am J Hum Genet. 1998 Jun;62(6):1341-52. doi: 10.1086/301870. Am J Hum Genet. 1998. PMID: 9585598 Free PMC article.

7

Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyria.

Gouya L, Schneider-Yin X, Rüfenacht U, Herrero C, Lecha M, Mascaro JM, Puy H, Deybach JC, Minder EI. Gouya L, et al. J Invest Dermatol. 1998 Sep;111(3):406-9. doi: 10.1046/j.1523-1747.1998.00327.x. J Invest Dermatol. 1998. PMID: 9740232 Free article.

8

Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update.

Rosipal R, Lamoril J, Puy H, Da Silva V, Gouya L, De Rooij FW, Te Velde K, Nordmann Y, Martàsek P, Deybach JC. Rosipal R, et al. Among authors: gouya l. Hum Mutat. 1999;13(1):44-53. doi: 10.1002/(SICI)1098-1004(1999)13:1<44::AID-HUMU5>3.0.CO;2-Q. Hum Mutat. 1999. PMID: 9888388

9

Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation.

Gouya L, Puy H, Lamoril J, Da Silva V, Grandchamp B, Nordmann Y, Deybach JC. Gouya L, et al. Blood. 1999 Mar 15;93(6):2105-10. Blood. 1999. PMID: 10068685 Free article.

10

Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria.

Schneider-Yin X, Gouya L, Dorsey M, Rüfenacht U, Deybach JC, Ferreira GC. Schneider-Yin X, et al. Among authors: gouya l. Blood. 2000 Aug 15;96(4):1545-9. Blood. 2000. PMID: 10942404 Free article.

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